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Gene

SH2B1

SH2B adaptor protein 1

Summary

Cytogenetic location
16p11.2
Coordinates
Chromosome 16: 28,863,843–28,874,205 (GRCh38)
Exons
8 exons across 10.4 kb
Protein
756 amino acids
Also known as
FLJ30542, SH2B
MANE Select transcript
ENST00000684370.1NM_001387430.1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads SH2B1 yet. The test sequences your whole genome, so your data includes it all the same.

How SH2B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where SH2B1 sits. SH2B1 and 21 genes near it on chromosome 16, from 28,369,024 to 29,369,023.Chromosome 1616p11.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.328.4 Mb28.6 Mb28.8 Mb29 Mb29.2 MbEIF3CL: 28,376,676–28,403,851, reverse strandEIF3CLNPIPB7: 28,456,322–28,472,336, reverse strand: 28,456,371–28,492,098, reverse strandCLN3: 28,474,111–28,495,575, reverse strandCLN3APOBR: 28,494,635–28,498,964, forward strandAPOBRIL27: 28,499,360–28,512,051, reverse strandIL27NUPR1: 28,532,708–28,539,068, reverse strandNUPR1SGF29: 28,538,176–28,591,792, forward strandSGF29SULT1A2: 28,589,688–28,599,913, reverse strandSULT1A2SULT1A1: 28,604,997–28,612,503, reverse strandSULT1A1NPIPB8: 28,637,654–28,658,744, forward strandNPIPB8EIF3C: 28,688,558–28,745,938, forward strandEIF3CNPIPB9: 28,751,787–28,772,864, forward strandNPIPB9ATXN2L: 28,822,983–28,837,237, forward strandATXN2LTUFM: 28,841,618–28,846,419, reverse strandTUFMSH2B1: 28,863,843–28,874,205, forward strandSH2B1ATP2A1: 28,878,383–28,904,511, forward strandATP2A1RABEP2: 28,898,740–28,936,526, reverse strandRABEP2CD19: 28,931,965–28,939,342, forward strandCD19NFATC2IP: 28,950,807–28,967,092, forward strandNFATC2IPSPNS1: 28,974,126–28,984,548, forward strandSPNS1LAT: 28,984,808–28,990,784, forward strandLATDiagram of SH2B1: 8 exons on the forward strand of chromosome 16Exon 2: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 28,863,843–28,867,033, 3,191 basesExon 2: 28,867,331–28,867,432, 102 basesExon 3: 28,869,006–28,869,097, 92 basesExon 4: 28,869,208–28,869,383, 176 basesExon 5: 28,871,780–28,871,983, 204 basesExon 6: 28,872,190–28,872,401, 212 basesExon 7: 28,872,534–28,872,705, 172 basesExon 8: 28,873,447–28,874,205, 759 bases123456785′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.9 kb of the gene's 10.4 kb; 2,271 of those bases code for the protein.

How a genome test reads SH2B1

2

positions in SH2B1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 10.4 kb of SH2B1, introns included, not only the 4.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SH2B1 gene: SH2B adaptor protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/sh2b1

Vancouver

Dante Labs. SH2B1 gene: SH2B adaptor protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sh2b1

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